SLC9A7

This website provides information on patients with mutations in the SLC9A7gene, including clinical data, molecular data, management, and research options.

This fact sheet provides information about a single recurrent missense variant in the SLC9A7gene (p.L515F) that causes a rare, non-syndromic, X chromosome-linked disorder associated with moderate to severe intellectual disability, motor and speech delay, hypotonia (decreased muscle tone), proximal muscle weakness, variable deep tendon reflexes, and bilateral clinodactyly.

Not all individuals with a genetic variation or mutation in the SLC9A7gene have these features. It does not provide information about conditions caused by chromosome deletions or duplications that involve the SLC9A7gene.

This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the SLC9A7gene.

John Orlowski, PhD, Department of Physiology, McGill University, Montreal, Quebec, Canada, john.orlowski@mcgill.ca
Mike Field, PhD, Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia, mike.field@health.nsw.gov.au